ABSTRACT
Purpose:
Ocular coloboma is a rare malformation resulting from defective closure of the embryonic optic fissure. It can affect iris, retina, choroid, optic disc or ciliary body. This study reviews the clinical diagnosis and the accompanying ocular and systemic abnormalities in cases of iris coloboma.
Material and Method:
Sixteen eyes of ten patients referred to our clinic and diagnosed as iris coloboma were included in the study and were reviewed retrospectively.
Results:
Seven cases were sporadic, and three cases were familial. Isolated iris coloboma was present in only one case, and chorioretinal involvement was present in all the others. Seven cases had involvement of the optic disc. Other ocular anomalies were unilateral microphthalmia in 3 cases, unilateral anophthalmia in 1 case, and unilateral microcornea in one case. Strabismus was present in the familial cases.
Discussion:
In patients, diagnosed with iris coloboma, routine eye examination should be completed, refractive errors should be corrected, and these patients must be follewed for amblyopia. If strabismus is concominant, surgery can be performed. For potential complications, patients should be checked at regular intervals.
Keywords:
Iris coloboma, ocular anomaly, systemic anomaly
References
1Pagon RA. Ocular coloboma. Surv Ophthalmol. 1981;25:223-36.
2Stoll C, Alembik Y, Dott B, Roth MP. Epidemiology of congenital eye malformations in 131 760 consecutive births. Ophthalmic Paediatr Genet. 1992;13:179-86.
3Wang P, Liang X, Yi J, Zhang Q. Novel SOX2 mutation associated with ocular coloboma in a Chinese Family. Arch Ophthalmol. 2008;126:709-13.
4Chang L, Blain D, Bertuzzi S, Brooks BP. Uveal coloboma: clinical and basic science update. Curr Opin Ophthalmol. 2006;17:447-70.
5Yaşar T, Çinal A, Andı İ. Bilgisayarlı Tomografi bulguları ile birlikte bir optik disk kolobomu ( morning glory sendromu). Ret-Vit. 2000;8:181-3.
6Onwochei BC, Simon JW, Bateman JB, Couture KC, Mir E. Ocular colobomata. Surv Ophthalmol. 2000;45:175-94.
7Kaderli B. Herediter olmayan konjenital anomaliler ve retina dekolmanları. Ret-Vit. 2005;13:83-8.
8Nixeaman DH. Cataract extraction in a case of congenital coloboma of the iris. Br J Ophthalmol. 1968;52:625-7.
9Jesberg DO, Schepens CL. Retinal detachment associated with coloboma of the choroid. Arch Ophthalmol. 1961;65:163-73.
10Gopal L, Badrinath SS, Sharma T, et al. Surgical management of retinal detachments related to coloboma of the choroid. Ophthalmology. 1998;105:804-9.
11Daufenbach DR, Ruttum MS, Pulido JS, Keech RV. Chorioretinal colobomas in a pediatric population. Ophthalmology. 1998;105:1455-8.
12Goodwin P, Shields CL, Ramasubramanian A, Brown GC, Shields JA. Ranibizumab for coloboma-related choroidal neovascular membrane in a child. J AAPOS. 2009;13:616-7.
13Saatçi O, Berk T, Kaynak S, Ergin M. İzole optik disk kolobomu ve jukstapapiller diskiform lezyon. Ret-Vit. 1994;2:83-5.
14Nakamura KM, Diehl NN, Mohney BG. Incidence, ocular findings, and systemic associations of ocular coloboma: a population-based study. Arch Ophthalmol. 2011;129:69-74.
